Paper Spotlight

Trainee Paper Spotlight: Michael D. Gallagher

Trainee Author: Michael D. Gallagher, BS, PhD Postdoctoral Associate Whitehead Institute for Biomedical Research (Photo courtesy Gallagher) Gallagher MD, et al. A Dementia-Associated Risk Variant near TMEM106B Alters Chromatin Architecture and Gene Expression. AJHG. 2017 Nov 2;101(5):643-663 This paper is a prime example of how to mechanistically follow up on a GWAS result. Gallagher et... Read More

Trainee Paper Spotlight: Eirini Marouli

Trainee Author: Eirini Marouli, PhD Postdoctoral Research Associate William Harvey Research Institute Barts and The London School of Medicine and Dentistry Queen Mary University of London (Photo courtesy Marouli) Marouli E, et al. Rare and low-frequency coding variants alter human adult height. Nature. 2017 Feb 9;542(7640):186-190 This paper greatly expands our understanding of the role... Read More

Trainee Paper Spotlight: Julie Craft Van De Weghe

Trainee Author: Julie Craft Van De Weghe, PhD Senior Postdoc Research Fellow Department of Pediatrics, University of Washington (Photo courtesy Van De Weghe) Van De Weghe JC, Rusterholz TDS, Latour B, et al. Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish. AJHG. 2017 Jun... Read More

Trainee Paper Spotlight: Ariel F. Martinez

Trainee Author: Ariel F. Martinez, PhD, MB (ASCP) Biologist National Human Genome Research Institute, National Institutes of Health (Photo courtesy Martinez) Martinez AF, et al. An Ultraconserved Brain-Specific Enhancer Within ADGRL3 (LPHN3) Underpins Attention-Deficit/Hyperactivity Disorder Susceptibility. Biological Psychiatry. 2016 Dec 15;80(12):943-954 This is the first study to show functional evidence as to how common non-coding... Read More

Trainee Paper Spotlight: Janson White

Trainee Author: Janson White, PhD Senior Fellow Department of Pediatrics, University of Washington (Photo courtesy White) White JJ, et al. WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome. AJHG. 2018 Jan 4;102(1):27-43. This study was selected for the Trainee Paper Spotlight because it uses extensive genetic and genomic studies to identify new pathogenic... Read More

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